Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results
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| 024 | 7 | 0 | |a 10.1007/s10897-015-9831-y |2 doi |
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| 245 | 0 | 0 | |a Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results |h [Elektronische Daten] |c [Paola Mandich, Vittorio Mantero, Simonetta Verdiani, Fabio Gotta, Claudia Caponnetto, Emilia Bellone, Giovanna Ferrandes, Paola Origone] |
| 520 | 3 | |a Rapid advances in the genetics of amyotrophic lateral sclerosis (ALS) have dramatically changed the approach of clinicians and researchers to the motor neuron diseases. We report two siblings in whom the genetic study provided conflicting results, hence raising a number of issues which deserve to be considered by clinicians involved in genetic testing for ALS. The first patient died within 2years of ALS onset, while her brother still manages to walk unaided, 7years into onset. Genetic analyses, performed on the first patient as part of a research protocol, and as clinical genetic testing on the brother, provided different results. Results for Patient 1 were negative for all investigated genes, thus suggesting that her disease may be a phenocopy, while her brother carried an autosomal dominant TARDBP mutation (p.A382T). A multidisciplinary approach may help patients and clinicians face the emerging dilemmas in such a complex field. Sharing and updating of advances, not to mention uncertainties inherent to current knowledge, with patients and families may prove to be an effective way to support them and to make them aware of the present limits of our knowledge and of the blurred border between research and clinical practice. | |
| 540 | |a National Society of Genetic Counselors, Inc., 2015 | ||
| 690 | 7 | |a Amyotrophic lateral sclerosis |2 nationallicence | |
| 690 | 7 | |a ALS |2 nationallicence | |
| 690 | 7 | |a Genetic |2 nationallicence | |
| 690 | 7 | |a Genetic counseling |2 nationallicence | |
| 690 | 7 | |a TARDBP |2 nationallicence | |
| 690 | 7 | |a TDP43 |2 nationallicence | |
| 690 | 7 | |a Genetic testing |2 nationallicence | |
| 690 | 7 | |a Ethical dilemma |2 nationallicence | |
| 700 | 1 | |a Mandich |D Paola |u Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy |4 aut | |
| 700 | 1 | |a Mantero |D Vittorio |u Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy |4 aut | |
| 700 | 1 | |a Verdiani |D Simonetta |u Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy |4 aut | |
| 700 | 1 | |a Gotta |D Fabio |u Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy |4 aut | |
| 700 | 1 | |a Caponnetto |D Claudia |u U.O. Neurology of IRCCS AOU S. Martino - IST, Via Largo Benzi 10, 16132, Genoa, Italy |4 aut | |
| 700 | 1 | |a Bellone |D Emilia |u Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy |4 aut | |
| 700 | 1 | |a Ferrandes |D Giovanna |u U.O. Clinical Psychology, IRCCS AOU San Martino-IST, Via Largo Benzi 10, 16132, Genoa, Italy |4 aut | |
| 700 | 1 | |a Origone |D Paola |u U.O. Medical Genetics of IRCCS AOU S. Martino - IST, Via Largo Benzi 10, 16132, Genoa, Italy |4 aut | |
| 773 | 0 | |t Journal of Genetic Counseling |d Springer US; http://www.springer-ny.com |g 24/4(2015-08-01), 553-557 |x 1059-7700 |q 24:4<553 |1 2015 |2 24 |o 10897 | |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s10897-015-9831-y |q text/html |z Onlinezugriff via DOI |
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| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1007/s10897-015-9831-y |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Mandich |D Paola |u Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Mantero |D Vittorio |u Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Verdiani |D Simonetta |u Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Gotta |D Fabio |u Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Caponnetto |D Claudia |u U.O. Neurology of IRCCS AOU S. Martino - IST, Via Largo Benzi 10, 16132, Genoa, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Bellone |D Emilia |u Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Ferrandes |D Giovanna |u U.O. Clinical Psychology, IRCCS AOU San Martino-IST, Via Largo Benzi 10, 16132, Genoa, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Origone |D Paola |u U.O. Medical Genetics of IRCCS AOU S. Martino - IST, Via Largo Benzi 10, 16132, Genoa, Italy |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Journal of Genetic Counseling |d Springer US; http://www.springer-ny.com |g 24/4(2015-08-01), 553-557 |x 1059-7700 |q 24:4<553 |1 2015 |2 24 |o 10897 | ||